Sunday, July 16, 2017

Gene-Altering Leukemia Treatment, F.D.A Recommended for Approval

A F.D.A panel has recently recommended a new gene therapy that allows a cancer patient's own cells to fight their illness. Novartis may be the first company to have a cancer gene therapy reach market. Their treatment is for leukemia and is created separately for each individual patient. The FDA has recommended it for B-cell acute lymphoblastic leukemia that has resisted treatment or relapsed in patients, 3 to 25 years of age. The first child ever given the treatment Emily Whitehead, is now cancer free after the treatment, despite suffering through the severe side effects of fever and lung congestion. Emily and her family were seen at the panel in order to advocate for the treatments approval. Another study was presented to the F.D.A panel as evidence, where 82.5% of the patients went into remission, showcasing the treatment effectiveness. However, the panel voiced concerns with the possible secondary side effects of the treatment and quality control as the number of treatments increases. The evidence in support of this treatment looks promising and I hope this moves towards advancements in treating other types of cancer. This article shows the continuing progress that science is making towards treating grave illnesses.


The Upside of Bad Genes

A recent article about the "Upside of Bad Genes" in The New York Times said there is a possibility of new developments that will allow doctors and scientists to erase/delete harmful genes all together.  The new technology is called Crispr-Cas9, this method is still a few years off from being used in clinical settings due to the fact that scientists are still unsure about unknown consequences.  While the ability to delete 'harmful' genes seems like an amazing concept; however, for people in sub-Saharan Africa can actually benefit from the "harmful" Sickle Cell gene.  If an imaginary couple had four children, one would most likely have Sickle Cell Anemia, but two of the children would likely have one Sickle Cell gene which will prevent them from Malaria, which is a big concern in countries like Africa and India.  This is also hypothesized for Cystic Fibrosis, two genes causes the disease, but one gene may be able to help prevent Tuberculosis.  The question now is, do we delete the gene even though it has helped in the past? This is a hard question to answer, and I don't think we have enough research to answer it yet.  In certain parts of the world people benefit from having one copy of the gene but the people that have two copies of the gene will continue to suffer; without the gene all together more people may become affected by the disease.

Friday, July 14, 2017

Pre-Historic Humans Survived Despite Risky Genes

In a recent study, researchers found that before the ice age a gene that reduces height and increases the risk of osteoarthritis was favorable for survival. As humans migrated north towards colder climates the mutation may have helped the early humans retain warmth and avoid frostbite due to their shorter size. This gene may also have helped humans to avoid bone fractures when they fell on ice. This may come as a surprise due to the fact that today this gene would be seen as detrimental and puts an individual at a higher risk for developing arthritis. Scientist looked into the GDF5 gene, which is known to be involved in skeletal growth. They found a mutation in a single nucleotide, in an area named GROW1 and noticed its prevalence in Europeans and Asians, but not Africans. The researchers then tested the gene in mice and found that it shortened their bone length, similar to what was found in humans. The paradoxical effect of this gene is similar to that of sickle cell anemia and it's protection from malaria. I believe this shows just how complex the human genome is and how different genes play a role in human survival. It is possible that having a detrimental gene could be the key to our survival.

Tuesday, July 11, 2017

Ancient Denisovan DNA Found in Baby Tooth

In the Altai Mountains in Central Asia a baby tooth was found linking back to over 100,000 years ago. Scientist were exploring the Denisova Cave and uncovered a fossilized baby tooth that once belonged to an extinct cousin of the Neanderthals, the Denisovans. The results from DNA sequencing and analyzing  provided scientists with the approximate age of the fossil. It is about 20,000 years older than the next oldest fossil from a Denisovan, making it one of the oldest hominin fossils found in Central Asia. In order to identify the fossils origins the sequenced DNA was compared to Denisovan, Neanderthals and modern humans. The mitochondrial genomes were closest to the Denisovans. Scientists noticed there was more genetic variability than the Neanderthals, despite only living in a confined space. There is little known about the now extinct group of people but scientist have another piece of the puzzle due to genetic analysis and molecular biology. The power of molecular biology has allowed for scientists to discover how diverse the world was hundreds of thousands of years ago. I believe this field of study will only improve and become an asset in identifying diseases for expecting parents and their offspring. It would also increase the accuracy of ancestry identification services for specific individuals.

NY Times Article

Monday, July 10, 2017

A New Organism is Created With The Smallest Genome

The J. Craig Venter Institute in California has created an artificial species that has the smallest number of genes of any currently living organism. The organism named Mycoplasma mycoides JCVI-syn3.0 has only 473 genes and 149 of those genes do not contain any known function. This species comes years after Venter's first creation in 1995, the Mycoplasma genitalium which had 525 genes. The current creation grows faster than the original, which allows for easier lab usage. It was created in part through adding and removing genes, using CRISPR tools until life could be sustained and reproduction was viable for the species. The goal of this project is to further our limited understanding of biology and the genes needed to sustain life. Biologists are able to learn more about editing and customizing cells with this invention of this artificial species, which could have a positive impact on drug development and alternative energy sources in the future. Biology research has improved vastly over the past decade and I believe this research will open doors in the medical field. It may become possible to grow organisms that can be used to fight disease and help reduce the issue of resistance in the population.


Friday, May 5, 2017

Scientists Discover Genetic Mutation That Causes Rare Skin Disease Keratolytic Winter Erythema

Scientists have now discovered the genetic mutation that is responsible for KWE in Afrikaners. The skin disease causes redness in the palms of the hands, as well as the soles of the feet followed by cycles of large areas of peeling skin. The symptoms are exaggerated in the winter, when the disease is at its peak in the cycle. A town in the Western Cape of South Africa is where it is most prevalence, affecting large families in this region. Keratolytic Winter Erythema, as well as other diseases such as familial Hypercholesterolemia, and porphyria are very common in this area as it has been observed the Afrikaner people have genetic predispositions for them. It has been a recent discovery that KWE is genetically linked instead of an environmental affect, as previously thought. Professor George Findley described the mode of inheritance as being dominant, and an unfortunate disease to have. Although this disease is extremely uncomfortable to live with, it can now be prevented in future generations with genetic counseling. I believe efforts like these to find the root of problems happening in populations are vital in society, especially when we wish to prevent them from occurring.

Medical Express

Could Genetics Influence What We Like To Eat?

Gene variants that affect the way our brain works could also affect our primary diet, and what we like to eat even if they are not good for us. Silvia Berciano, an undergrad at the University of Madrid, presents his findings and states that most have trouble changing their dietary habits because of specific brain genes that people have predetermined preferences. These preferences can make it extremely easy or extremely hard for someone to eat healthier and improve their well-being. These genes are similar to those that are said to cause anorexia and bulimia. This could also explain why this disease can be seen amongst family members. I find this article to be especially interesting because I have know individuals who were a mother and daughter who both struggled with eating disorders. I think genes can have a lot to do with one's feelings towards food.

Medical Press

Iceland's Genetic Goldmine

A fairly homogenous population, the people of Iceland prove to be very valuable to the field of genetics. The secluded society of Iceland demonstrates a term known as the founder affect which means a lot of the population descended from common ancestors. The genealogical records are incredible, having libraries of ancestors before them, accounting for most of the people in this part of the world. Kari Stefansson, the chief executive and founder of deCODE genetics, set out with his company to discover the unique genetic make up of his native land. According to his work, the Iceland population shows a larger prevalence in rare genetic variants in disease than those who are "outbred". Learning about how a disease may come about, especially with a detailed medical record of ancestors in one population, may help to prevent them from occurring again. This type of work may also help in genetic counseling to predict the likelihood of rare variants occurring in the future in populations other than in Iceland. I believe this type of work is very important, and we are very lucky to have a place like Iceland where there is a detailed history and a small population to observe.